Identification of TMEM230 mutations in familial Parkinson’s disease

@inproceedings{Deng2016IdentificationOT,
  title={Identification of TMEM230 mutations in familial Parkinson’s disease},
  author={Han-Xiang Deng and Yong Shi and Yi Yang and Kreshnik B. Ahmeti and Nimrod Miller and Cao Huang and Lijun Cheng and Hong Zhai and Sheng Deng and Karen Nuytemans and Nicola J. Corbett and Myung Jong Kim and Hao Deng and Baisha Tang and Ziquang Yang and Yanming Xu and Piao Chen and Bo Huang and Xiao-Ping Gao and Zhi Song and Zhenhua Liu and Faisal A Wahed Fecto and Nailah Siddique and Tatiana Foroud and Joseph Jankovic and Bernardino Ghetti and Daniel A Nicholson and Dimitri Krainc and Onur Melen and Jeffery M. Vance and Margaret A. Pericak-Vance and Yongchao C Ma and Ali H. Rajput and Teepu Siddique},
  booktitle={Nature Genetics},
  year={2016}
}
Parkinson's disease is the second most common neurodegenerative disorder without effective treatment. It is generally sporadic with unknown etiology. However, genetic studies of rare familial forms have led to the identification of mutations in several genes, which are linked to typical Parkinson's disease or parkinsonian disorders. The pathogenesis of Parkinson's disease remains largely elusive. Here we report a locus for autosomal dominant, clinically typical and Lewy body–confirmed Parkinson… CONTINUE READING
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References

Publications referenced by this paper.
Showing 1-10 of 41 references

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism

M Quadri
Hum Mutat • 2013

Yeast reveal a “druggable” Rsp5/Nedd4 network that ameliorates alpha-synuclein toxicity

DF Tardiff
in neurons. Science • 2013

Autosomal recessive parkinsonism.

Parkinsonism & related disorders • 2012

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